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    KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 [ Homo sapiens ]

    Gene ID: 3757, updated on 13-May-2012

    Summary

    Official Symbol
    KCNH2provided by HGNC
    Official Full Name
    potassium voltage-gated channel, subfamily H (eag-related), member 2provided by HGNC
    Primary source
    HGNC:6251
    See related
    Ensembl:ENSG00000055118; HPRD:01069; MIM:152427; Vega:OTTHUMG00000158341
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ERG1; HERG; LQT2; SQT1; HERG1; Kv11.1
    Summary
    This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    7q36.1
    Sequence :
    Chromosome: 7; NC_000007.13 (150642044..150675402, complement)
    See KCNH2 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene transmembrane protein 176B Neighboring gene transmembrane protein 176A Neighboring gene amiloride binding protein 1 (amine oxidase (copper-containing)) Neighboring gene nitric oxide synthase 3 (endothelial cell) Neighboring gene ATG9 autophagy related 9 homolog B (S. cerevisiae) Neighboring gene ATP-binding cassette, sub-family B (MDR/TAP), member 8

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q12809 Potassium channel regulator 1 ALG10    HPRD  PubMed  
    Q12809 Q5I7T1 ALG10B    HPRD  PubMed  
    Q12809 Q6P1J9 CDC73    HPRD  PubMed  
    Q12809 P15382 KCNE1    HPRD  PubMed  
    Q12809 Q9Y6J6 KCNE2    HPRD  PubMed  
    Q12809 O75380 NDUFS6    HPRD  PubMed  
    Q12809 P17612 PRKACA    HPRD  PubMed  
    Q12809 Q15669 RHOH    HPRD  PubMed  
    Q12809 P62258 YWHAE    HPRD  PubMed  
    Q12809 Q04917 YWHAH    HPRD  PubMed  
    BioGRID:109959 BioGRID:126840 ALG10B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109959 BioGRID:122724 CDC73    BioGRID  PubMed Two-hybrid 
    BioGRID:109959 BioGRID:109955 KCNE1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109959 BioGRID:110805 NDUFS6    BioGRID  PubMed Two-hybrid 
    BioGRID:109959 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109959 BioGRID:113363 YWHAE    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Potassium Channels, organism-specific biosystem (from REACTOME)
      Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
    • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
      Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    delayed rectifier potassium channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    inward rectifier potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    two-component sensor activity IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    blood circulation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of heart contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated potassium channel complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    potassium voltage-gated channel subfamily H member 2
    Names
    potassium voltage-gated channel subfamily H member 2
    ERG-1
    H-ERG
    hERG-1
    eag homolog
    eag-related protein 1
    ether-a-go-go-related protein 1
    ether-a-go-go-related gene potassium channel 1
    voltage-gated potassium channel subunit Kv11.1
    ether-a-go-go-related potassium channel protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008916.1 RefSeqGene

      Range
      4613..37971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_288

    mRNA and Protein(s)

    1. NM_000238.3NP_000229.1  potassium voltage-gated channel subfamily H member 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF363636, BM674996, DQ525913, U04270
      Consensus CDS
      CCDS5910.1
      UniProtKB/Swiss-Prot
      Q12809
      UniProtKB/TrEMBL
      Q15BH2
      Related
      ENSP00000262186, OTTHUMP00000212821, ENST00000262186, OTTHUMT00000350741
      Conserved Domains (5) summary
      cd00038
      Location:742853
      Blast Score: 212
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      cd00130
      Location:41132
      Blast Score: 112
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      PLN03192
      Location:410847
      Blast Score: 315
      PLN03192; Voltage-dependent potassium channel; Provisional
      pfam13426
      Location:29130
      Blast Score: 187
      PAS_9; PAS domain
      cl11596
      Location:611660
      Blast Score: 136
      Ion_trans_2; Ion channel
    2. NM_001204798.1NP_001191727.1  potassium voltage-gated channel subfamily H member 2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and 5' and 3' coding regions compared to variant 1, resulting in a shorter isoform (d) with different N- and C-termini compared to isoform a.
      Source sequence(s)
      AJ609614, BC001914, BG683210, BQ478289
      UniProtKB/Swiss-Prot
      Q12809
      UniProtKB/TrEMBL
      Q708S9
      Conserved Domains (3) summary
      cd00038
      Location:402462
      Blast Score: 121
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      PLN03192
      Location:70462
      Blast Score: 282
      PLN03192; Voltage-dependent potassium channel; Provisional
      cl11596
      Location:271320
      Blast Score: 124
      Ion_trans_2; Ion channel
    3. NM_172056.2NP_742053.1  potassium voltage-gated channel subfamily H member 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as HERG-USO, differs in the 3' UTR and 3' coding region compared to variant 1, resulting in a shorter isoform (b) with a different C-terminus compared to isoform a.
      Source sequence(s)
      AB044806, BC001914, BQ478289, DQ525913
      Consensus CDS
      CCDS47747.1
      UniProtKB/TrEMBL
      G5E9I0
      UniProtKB/Swiss-Prot
      Q12809
      UniProtKB/TrEMBL
      Q15BH2
      Related
      ENSP00000387657, ENST00000430723
      Conserved Domains (5) summary
      cd00038
      Location:742802
      Blast Score: 122
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      cd00130
      Location:41132
      Blast Score: 112
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      PLN03192
      Location:410802
      Blast Score: 283
      PLN03192; Voltage-dependent potassium channel; Provisional
      pfam13426
      Location:29130
      Blast Score: 187
      PAS_9; PAS domain
      cl11596
      Location:611660
      Blast Score: 132
      Ion_trans_2; Ion channel
    4. NM_172057.2NP_742054.1  potassium voltage-gated channel subfamily H member 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as HERG1b, differs in the 5' UTR and 5' coding region compared to variant 1, resulting in a shorter isoform (c) with a different N-terminus compared to isoform a.
      Source sequence(s)
      AJ512214, BG683210, BM674996, U04270
      Consensus CDS
      CCDS5911.1
      UniProtKB/Swiss-Prot
      Q12809
      Related
      ENSP00000328531, OTTHUMP00000212824, ENST00000330883, OTTHUMT00000350744
      Conserved Domains (3) summary
      cd00038
      Location:402513
      Blast Score: 210
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      PLN03192
      Location:70507
      Blast Score: 314
      PLN03192; Voltage-dependent potassium channel; Provisional
      cl11596
      Location:271320
      Blast Score: 133
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      150642044..150675402, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      144454320..144487268, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      149971333..150004698, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AACC02000108.1 EAL24491.1
      EAL24492.1
      EAL24493.1
    genomic AB009071.2 BAA37096.1
    genomic AC006343.3 (200..21649) None
    genomic AC011234.2 AAS07566.1
      AAS07567.1
    genomic AJ010538.1 CAA09232.1
    genomic AY380044.1 AAQ91589.1
    genomic AY380045.1 AAQ91590.1
    genomic AY380046.1 AAQ91591.1
    genomic AY380047.1 AAQ91592.1
    genomic AY380048.1 AAQ91593.1
    genomic AY380049.1 AAQ91594.1
    genomic AY380050.1 AAQ91595.1
    genomic AY380051.1 AAQ91596.1
    genomic AY380052.1 AAQ91597.1
    genomic AY380053.1 AAQ91598.1
    genomic AY380054.1 AAQ91599.1
    genomic AY380055.1 AAQ91600.1
    genomic AY380056.1 AAQ91601.1
    genomic CH471173.2 EAW54071.1
      EAW54072.1
      EAW54073.1
      EAW54074.1
      EAW54075.1
    genomic CS114788.1 CAJ13411.1
    genomic CS114790.1 CAJ13412.1
    genomic CS124199.1 CAJ18800.1
    genomic CS124201.1 CAJ18801.1
    genomic DQ784808.1 ABQ01243.1
    mRNA AB044806.1 BAB19682.1
    mRNA AF052728.1 AAC69709.1
    mRNA AF363636.1 AAL37559.1
    mRNA AJ512214.1 CAD54447.1
    mRNA AJ609614.1 CAE82156.1
    mRNA BC001914.1 AAH01914.2
    mRNA BC004311.2 AAH04311.2
    mRNA BC127673.1 AAI27674.1
    mRNA BG683210.1 None
    mRNA BM674996.1 None
    mRNA BQ478289.1 None
    mRNA BQ890248.1 None
    mRNA BT007336.1 AAP36000.1
    mRNA DQ120124.1 AAZ40507.1
    mRNA DQ120125.1 AAZ40508.1
    mRNA DQ525913.1 ABF71886.1
    mRNA FJ938021.1 ACR24650.1
    mRNA U04270.1 AAA62473.1
    other-genetic BC167862.1 AAI67862.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12809.1 GenPept UniProtKB/Swiss-Prot:Q12809
    Q15BH2 GenPept UniProtKB/TrEMBL:Q15BH2
    Q45QN4 GenPept UniProtKB/TrEMBL:Q45QN4
    Q45QN5 GenPept UniProtKB/TrEMBL:Q45QN5
    Q6U279 GenPept UniProtKB/TrEMBL:Q6U279
    Q6U283 GenPept UniProtKB/TrEMBL:Q6U283
    Q6U287 GenPept UniProtKB/TrEMBL:Q6U287
    Q708S9 GenPept UniProtKB/TrEMBL:Q708S9
    Q75MK8 GenPept UniProtKB/TrEMBL:Q75MK8
    Q75MK9 GenPept UniProtKB/TrEMBL:Q75MK9
    Q86U57 GenPept UniProtKB/TrEMBL:Q86U57

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